日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

OLA1基因的双等位基因变异会导致一种伴有关节过度活动的神经发育障碍。

AlAbdi, Lama; Sezer, Abdullah; Alzahrani, Fatema; Cevik, Sebiha; Demir, Zanyar; Abdullah, Nor Linda; Durukan, Özlem; Dallı, Efe; Hashem, Mais O; Abuyousef, Omar; Aljamal, Bayan; Helaby, Rana; Radwan, Mona; Jaafar, Amal; Alshidi, Tarfa; Salem, Israa; Hamid, Halima; Alhaddad, Bader; Bakur, Khadijah; Taşdelen, Elifcan; Kılıç, Mustafa; Al-Owain, Mohammed; Alhashem, Amal; Bratland, Eirik; Paulsen, Julie; Houge Douzgos, Gunnar; Politi, Anya Revah; Uguen, Kevin; Masson, Emmanuelle; Audebert, Severine; AlAnzi, Talal; Arold, Stefan T; Ergin, Bora; Ibrahim, Leena A; Kaplan, Oktay I; Alkuraya, Fowzan S

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

基于 4577 个分子特征家族的致病变异识别陷阱的诊断意义

Lama AlAbdi, Sateesh Maddirevula, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani; Mendeliome Group; Fowzan S Alkuraya

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

超越外显子组:长读全基因组测序在外显子组阴性常染色体隐性遗传疾病中的应用

Lama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O Khan, Elham Mardawi, Hisham Alkuraya, 

Confirming the recessive inheritance of PERP-related erythrokeratoderma

确认 PERP 相关红斑角化病的隐性遗传

Nisha Patel, Salim Alkeraye, Eman Alobeid, Tarfa Alshidi, Rana Helaby, Firdous Abdulwahab, Hanan E Shamseldin, Fowzan S Alkuraya

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

GZF1基因突变扩大了拉森综合征的遗传异质性

Patel, Nisha; Shamseldin, Hanan E; Sakati, Nadia; Khan, Arif O; Softa, Ameen; Al-Fadhli, Fatima M; Hashem, Mais; Abdulwahab, Firdous M; Alshidi, Tarfa; Alomar, Rana; Alobeid, Eman; Wakil, Salma M; Colak, Dilek; Alkuraya, Fowzan S

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

SMG9基因的突变(该基因编码无义介导衰变机制的关键组成部分)会导致人类和小鼠出现多发性先天性异常综合征。

Ranad Shaheen ,Shams Anazi ,Tawfeg Ben-Omran ,Mohammed Zain Seidahmed ,L Brianna Caddle ,Kristina Palmer ,Rehab Ali ,Tarfa Alshidi ,Samya Hagos ,Leslie Goodwin ,Mais Hashem ,Salma M Wakil ,Mohamed Abouelhoda ,Dilek Colak ,Stephen A Murray ,Fowzan S Alkuraya

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

12q24.31-q24.33 染色体缺失导致多种畸形特征和发育迟缓:首例嵌合体患者及与 12q24qter 缺陷相关的表型概述

Al-Zahrani, Jawaher; Al-Dosari, Naji; Abudheim, Nada; Alshidi, Tarfa A; Colak, Dilek; Al-Habit, Ola; Al-Odaib, Ali; Sakati, Nadia; Meyer, Brian; Ozand, Pinar T; Kaya, Namik